ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)

dbSNP: rs398123764
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175751 SCV000227291 pathogenic not provided 2012-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001050376 SCV001214479 pathogenic Qualitative or quantitative defects of dysferlin 2023-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys36Serfs*12) in the DYSF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with dysferlinopathy (PMID: 18853459, 19528035). ClinVar contains an entry for this variant (Variation ID: 94263). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003415847 SCV004109733 pathogenic DYSF-related disorder 2023-04-26 criteria provided, single submitter clinical testing The DYSF c.107_108delAA variant is predicted to result in a frameshift and premature protein termination (p.Lys36Serfs*12). This variant has been reported in individuals with DYSF-related disorders (Krahn et al. 2009. PubMed ID: 18853459; Klinge et al. 2009. PubMed ID: 19528035). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in DYSF are expected to be pathogenic. This variant is interpreted as pathogenic.
Baylor Genetics RCV003466977 SCV004196535 pathogenic Miyoshi muscular dystrophy 1 2023-05-06 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000175751 SCV004229601 pathogenic not provided 2022-11-02 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has been identified in at least one individual with clinical features associated with limb-girdle muscular dystrophy and at least one individual with clinical features of Miyoshi muscular dystrophy. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).
Fulgent Genetics, Fulgent Genetics RCV005025134 SCV005659255 pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2024-05-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273959 SCV001457593 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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